Severe Tangier disease with a novel ABCA1 gene mutation.
Schippling
S
S
Department of Neurology, University Medical Center Hamburg Eppendorf, Martinistr. 52, 20246 Hamburg, Germany. s.schippling@uke.uni-hamburg.de
Orth
M
M
Beisiegel
U
U
Rosenkranz
T
T
Vogel
P
P
Münchau
A
A
Hagel
C
C
Seedorf
U
U
D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D002784:Cholesterol / Q000378:metabolism; D004252:DNA Mutational Analysis / Q000379:methods; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D013497:Sural Nerve / Q000378:metabolism / Q000473:pathology; D013631:Tangier Disease / Q000235:genetics* / Q000473:pathology
C577836:ABCA1 protein, human; D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters; D002784:Cholesterol